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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LYRM4
LYR motif containing 4
Chromosome 6 Β· 6p25.1
NCBI Gene: 57128Ensembl: ENSG00000214113.11HGNC: HGNC:21365UniProt: C9JRX8
67PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial [2Fe-2S] assembly complexnuclear bodyprotein bindingprotein homodimerization activitycombined oxidative phosphorylation deficiency 19complicationtrauma complicationmedical procedure
✦AI Summary

LYRM4 encodes ISD11, a critical component of the mitochondrial iron-sulfur cluster (ISC) assembly machinery that stabilizes the core ISC assembly complex and regulates the cysteine desulfurase activity of NFS1 1. The protein functions as a stabilizing factor in association with NDUFAB1 to facilitate [2Fe-2S] cluster assembly on the scaffolding protein ISCU, representing the initial step in mitochondrial iron-sulfur protein biogenesis. LYRM4 deficiency causes combined oxidative phosphorylation deficiency 19, manifesting as life-threatening cardiorespiratory episodes with hyperlactacidemia and 3-methylglutaconic aciduria 1. Beyond mitochondrial function, LYRM4 has emerged as an oncogene in multiple cancer types. Genetic variants affecting LYRM4 expression contribute to non-small cell lung cancer risk through alternative polyadenylation mechanisms 2. The gene is upregulated in hepatocellular carcinoma, where it enhances succinate dehydrogenase activity and promotes fumarate accumulation, driving tumorigenesis 3. LYRM4 expression is also elevated in glioma and correlates with poor prognosis and immune infiltration 4. Additionally, LYRM4 promoter polymorphisms are associated with cognitive deficits in schizophrenia, potentially through effects on mitochondrial oxidative phosphorylation 5.

Sources cited
1
LYRM4 encodes ISD11 protein and deficiency causes combined oxidative phosphorylation deficiency with cardiorespiratory episodes
PMID: 31497476
2
Genetic variants in LYRM4 contribute to non-small cell lung cancer risk through alternative polyadenylation
PMID: 40285671
3
LYRM4 is upregulated in hepatocellular carcinoma and promotes fumarate accumulation through enhanced succinate dehydrogenase activity
PMID: 40320061
4
LYRM4 expression is elevated in glioma and correlates with poor prognosis and immune infiltration
PMID: 37810780
5
LYRM4 promoter polymorphisms are associated with cognitive deficits in schizophrenia
PMID: 21968932
Disease Associationsβ“˜21
combined oxidative phosphorylation deficiency 19Open Targets
0.68Moderate
complicationOpen Targets
0.23Weak
medical procedureOpen Targets
0.23Weak
trauma complicationOpen Targets
0.23Weak
rectosigmoid junction neoplasmOpen Targets
0.23Weak
liver diseaseOpen Targets
0.23Weak
cardiomyopathyOpen Targets
0.21Weak
narcolepsyOpen Targets
0.20Weak
hypotensionOpen Targets
0.19Weak
COVID-19Open Targets
0.17Weak
severe acute respiratory syndromeOpen Targets
0.16Weak
obesityOpen Targets
0.15Weak
placenta praeviaOpen Targets
0.14Weak
VertigoOpen Targets
0.12Weak
ovarian neoplasmOpen Targets
0.12Weak
tooth agenesisOpen Targets
0.09Suggestive
placental retentionOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
nephrotic syndromeOpen Targets
0.05Suggestive
Combined oxidative phosphorylation deficiency 19UniProt
Pathogenic Variants1
NM_020408.6(LYRM4):c.203G>T (p.Arg68Leu)Pathogenic
Combined oxidative phosphorylation deficiency 19
β˜†β˜†β˜†β˜†2013β†’ Residue 68
View on ClinVar β†—
Related Genes
SCLYProtein interaction100%NFS1Protein interaction92%SDHAF1Protein interaction90%FDXRProtein interaction88%ABCB7Protein interaction87%FDX1Protein interaction87%
Tissue Expression6 tissues
Brain
100%
Ovary
93%
Heart
78%
Bone Marrow
69%
Liver
57%
Lung
53%
Gene Interaction Network
Click a node to explore
LYRM4SCLYNFS1SDHAF1FDXRABCB7FDX1
PROTEIN STRUCTURE
Preparing viewer…
PDB6UXE Β· 1.57 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.49LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.52–1.49]
RankingsWhere LYRM4 stands among ~20K protein-coding genes
  • #6,995of 20,598
    Most Researched67
  • #5,013of 5,498
    Most Pathogenic Variants1
  • #15,093of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedLYRM4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic Regulation of Alternative Polyadenylation Provides Novel Insights into Molecular Mechanisms Underlying Non-small Cell Lung Cancer.
PMID: 40285671
Adv Sci (Weinh) Β· 2025
1.00
2
Iron-sulfur cluster ISD11 deficiency (
PMID: 31497476
JIMD Rep Β· 2019
0.90
3
Mitochondrial-related genome-wide Mendelian randomization identifies putatively causal genes in the pathogenesis of sepsis.
PMID: 39933430
Surgery Β· 2025
0.80
4
High LYRM4-AS1 predicts poor prognosis in patients with glioma and correlates with immune infiltration.
PMID: 37810780
PeerJ Β· 2023
0.70
5
Integrated functional genomics-identified LYRM4 promotes fumarate accumulation and hepatocellular carcinoma progression.
PMID: 40320061
Arch Biochem Biophys Β· 2025
0.60